Stephan Züchner

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Stephan Züchner, Irina Mersiyanova, M. Muglia et al. · Nature Genetics · 2004 · 1.6K citations · Full text

Life Sciences, Genetics, Neurology +11

dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway

Jeannette M. Osterloh, Jing Yang, Timothy M. Rooney et al. · Science · 2012 · 718 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

Ian R. Mackenzie, Alexandra M. Nicholson, Mohona Sarkar et al. · Neuron · 2017 · 651 citations · Full text

Life Sciences, Neurology, Neuroscience +16

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan et al. · Nature Genetics · 2019 · 581 citations · Full text

Life Sciences, Neurology, Neurogenetics +9

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán et al. · Human Mutation · 2015 · 488 citations · Full text

Life Sciences, Bioinformatics, Genetics +13